177,134 research outputs found
Study on the Pteridines Metabolism in Children Affected by Hyperphenylalaninaemia and Phenylketonuria
No full textAtypical phenylketonuria (PKU) is caused by tetrahydrobiopterin (BH4) deficiency. In Italy a systematic screening service for BH4 deficiency is not currently performed, therefore its real frequency is not known yet. We determined urinary excretion of biopterin (B) and neopterin (N) by HPLC in 74 phenylketonuric and hyperphenylalaninemic subjects, including all newborns with positive Guthrie's test for PKU since 1984. We found two patients with N and B urinary values above the classical PKU range. In these subjects we also performed a BH4 loading test that restored a normal plasma phenylalanine level in one case, while it had no effect in the other one. In both of them, the enzymatic activity of dihydropteridine reductase on dried blood spots was absent. We conclude that the determination of urinary pteridines together with the BH4 loading test are useful and informative tools in the screening of BH4 deficiencies, but that a conclusive diagnosis can only be achieved by the enzymatic assays
ITALIAN STUDY ON THE PTERIDINES METABOLISM IN CHILDREN AFFECTED BY HYPERPHENYLALANINEMIA AND PHENYLKETONURIA
No full text
Resting State Effective Connectivity Abnormalities of the Papez Circuit Contribute to Explain Worse Cognitive Performances in Multiple Sclerosis Patients (P1-1.Virtual)
No full textResting state effective connectivity abnormalities of the Papez circuit contribute to explain worse cognitive performance in multiple sclerosis patients
No full textRESTING STATE FUNCTIONAL CONNECTIVITY CHANGES OF THE HYPOTHALAMUS IN MIGRAINE PATIENTS: A CROSS-SECTIONAL AND LONGITUDINAL STUDY
No full text
Resting State Functional Connectivity Changes of the Pons in Migraine Patients: A Cross-Sectional and Longitudinal Study
No full text- …
